NM_000116.5(TAFAZZIN):c.236_238+5del AND 3-Methylglutaconic aciduria type 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001044975.5
Allele description [Variation Report for NM_000116.5(TAFAZZIN):c.236_238+5del]
NM_000116.5(TAFAZZIN):c.236_238+5del
Condition(s)
- Name:
- 3-Methylglutaconic aciduria type 2 (BTHS)
- Synonyms:
- Barth syndrome; 3-methylglutaconicaciduria type II; MGA type II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010543; MedGen: C0574083; Orphanet: 111; OMIM: 302060
Assertion and evidence details
Last Updated: Sep 29, 2024